Variant report

Variant	rs740247
Chromosome Location	chr8:1403570-1403571
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1403515..1406452-chr8:1410045..1411937,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10780153	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11136393	0.81[ASN][1000 genomes]
rs11785279	0.88[EUR][1000 genomes]
rs12544724	0.86[EUR][1000 genomes]
rs12676980	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4419835	0.84[EUR][1000 genomes]
rs4484724	0.85[EUR][1000 genomes]
rs4489342	0.85[EUR][1000 genomes]
rs4875861	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6995216	0.86[EUR][1000 genomes]
rs6995218	0.86[EUR][1000 genomes]
rs6999112	0.83[EUR][1000 genomes]
rs6999331	0.85[EUR][1000 genomes]
rs7003228	0.85[EUR][1000 genomes]
rs7009246	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7013449	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7015452	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7017544	0.83[EUR][1000 genomes]
rs733596	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs733597	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs733598	0.85[EUR][1000 genomes]
rs733599	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs740244	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs740245	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740249	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7834824	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7839699	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7843276	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs886747	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs886748	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929384	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9785112	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9785114	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026194	chr8:600959-1467446	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1028487	chr8:674077-1642737	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv429833	chr8:720491-1514173	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv932163	chr8:977218-1628286	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv949592	chr8:1108087-1561756	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1026673	chr8:1142469-1679673	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1828967	chr8:1298319-1410613	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv609509	chr8:1301110-1589888	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1028612	chr8:1319801-1468340	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv539295	chr8:1319801-1468340	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv1835443	chr8:1341878-1418894	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv469881	chr8:1374637-1561949	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv427811	chr8:1400816-1676653	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1400400-1407600	Enhancers	Fetal Brain Male	brain
2	chr8:1402000-1404200	Enhancers	Fetal Brain Female	brain
3	chr8:1402400-1403600	Enhancers	Brain Cingulate Gyrus	brain
4	chr8:1402400-1403800	Enhancers	Fetal Lung	lung
5	chr8:1402600-1404000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:1402600-1404200	Weak transcription	Brain Anterior Caudate	brain
7	chr8:1402800-1404800	Weak transcription	Brain Angular Gyrus	brain
8	chr8:1403000-1404200	Enhancers	Spleen	Spleen
9	chr8:1403000-1405200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:1403200-1403800	Enhancers	Pancreas	Pancrea
11	chr8:1403200-1404200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:1403200-1404200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:1403200-1404200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:1403200-1404400	Bivalent Enhancer	Fetal Stomach	stomach
15	chr8:1403400-1404200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:1403400-1404400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:1403400-1404800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr8:1403400-1405400	Enhancers	Brain Germinal Matrix	brain

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